SCN4-related centronuclear myopathy (SCN-CNM)
Evidence-based neurology checklist on scn4-related centronuclear myopathy (scn-cnm): Muscle features Facial and neck weakness Ptosis Proximal weakness Axial hypotonia Respiratory impairment Swallowing difficulties Skeletal features Perinatal features Magnetic resonance imaging (MRI) muscle…
Muscle features
- Facial and neck weakness
- Ptosis
- Proximal weakness
- Axial hypotonia
- Respiratory impairment
- Swallowing difficulties
Skeletal features
Perinatal features
Magnetic resonance imaging (MRI) muscle atrophy: sites
Muscle biopsy: features
References
- Zaharieva IT, Thor MG, Oates EC, et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain 2016; 139:674-691.
- Gonorazky HD, Marshall CR, Al-Murshed M, et al. Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. Neuromuscul Disord 2017; 27:574-580.
- Mercier S, Lornage X, Malfatti E, et al. Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. Neurology 2017; 88:414-416.
